Canonical Allele Identifier: CA394553768

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 985827
• ClinVar RCV Id: RCV001266939
• dbSNP Id: rs2051824872
• MyVariant Identifiers: chr16:g.3778783T>A (hg19) ; chr16:g.3728782T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728782T>A , CM000678.2:g.3728782T>A	GRCh38
NC_000016.9:g.3778783T>A , CM000678.1:g.3778783T>A	GRCh37
NC_000016.8:g.3718784T>A	NCBI36
NG_009873.1:g.156339A>T
NG_009873.2:g.156932A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6265A>T MANE Select	ENSP00000262367.5:p.Ile2089Phe
ENST00000262367.9:c.6265A>T	ENSP00000262367.5:p.Ile2089Phe
ENST00000382070.7:c.6151A>T	ENSP00000371502.3:p.Ile2051Phe
NM_001079846.1:c.6151A>T	NP_001073315.1:p.Ile2051Phe
NM_004380.2:c.6265A>T	NP_004371.2:p.Ile2089Phe
XM_005255124.3:c.6220A>T	XP_005255181.1:p.Ile2074Phe
XM_005255125.3:c.5848A>T	XP_005255182.1:p.Ile1950Phe
XM_006720848.2:c.6004A>T	XP_006720911.1:p.Ile2002Phe
XM_011522380.1:c.6211A>T	XP_011520682.1:p.Ile2071Phe
XM_011522381.1:c.5512A>T	XP_011520683.1:p.Ile1838Phe
XM_005255124.4:c.6220A>T	XP_005255181.1:p.Ile2074Phe
XM_005255125.4:c.5848A>T	XP_005255182.1:p.Ile1950Phe
XM_006720848.3:c.6004A>T	XP_006720911.1:p.Ile2002Phe
XM_011522381.2:c.5512A>T	XP_011520683.1:p.Ile1838Phe
XM_017022944.1:c.6259A>T	XP_016878433.1:p.Ile2087Phe
NM_004380.3:c.6265A>T MANE Select	NP_004371.2:p.Ile2089Phe